Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=105
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=106", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=104", "results": [ { "gene_data": { "alias": [ "gC1Q-R", "gC1qR", "p32", "SF2p32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1243", "gene_name": "complement C1q binding protein", "omim_gene": [ "601269" ], "alias_name": [ "C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein" ], "gene_symbol": "C1QBP", "hgnc_symbol": "C1QBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:5336097-5352150", "ensembl_id": "ENSG00000108561" } }, "GRch38": { "90": { "location": "17:5432777-5448830", "ensembl_id": "ENSG00000108561" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "C1QBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28942965" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 33, MIM# 617713" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1245", "gene_name": "complement C1q C chain", "omim_gene": [ "120575" ], "alias_name": null, "gene_symbol": "C1QC", "hgnc_symbol": "C1QC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22970123-22974603", "ensembl_id": "ENSG00000159189" } }, "GRch38": { "90": { "location": "1:22643630-22648110", "ensembl_id": "ENSG00000159189" } } }, "hgnc_date_symbol_changed": "2006-02-09" }, "entity_type": "gene", "entity_name": "C1QC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21654842", "8630118", "24157463" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C1q deficiency MIM#613652" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CTRP5", "DKFZp586B0621", "LORD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14344", "gene_name": "C1q and TNF related 5", "omim_gene": [ "608752" ], "alias_name": [ "complement-c1q tumor necrosis factor-related protein 5", "myonectin" ], "gene_symbol": "C1QTNF5", "hgnc_symbol": "C1QTNF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119209652-119217383", "ensembl_id": "ENSG00000223953" } }, "GRch38": { "90": { "location": "11:119338939-119340940", "ensembl_id": "ENSG00000223953" } } }, "hgnc_date_symbol_changed": "2001-10-02" }, "entity_type": "gene", "entity_name": "C1QTNF5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "33949280", "12944416", "30451557", "28939808", "32036094" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinal degeneration, late-onset, autosomal dominant MIM#605670" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1246", "gene_name": "complement C1r", "omim_gene": [ "613785" ], "alias_name": null, "gene_symbol": "C1R", "hgnc_symbol": "C1R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7187513-7245203", "ensembl_id": "ENSG00000159403" } }, "GRch38": { "90": { "location": "12:7080209-7092607", "ensembl_id": "ENSG00000159403" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C1R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27745832", "28306229" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080 Current\t Edit" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1247", "gene_name": "complement C1s", "omim_gene": [ "120580" ], "alias_name": null, "gene_symbol": "C1S", "hgnc_symbol": "C1S", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7096351-7178336", "ensembl_id": "ENSG00000182326" } }, "GRch38": { "90": { "location": "12:6988259-7071032", "ensembl_id": "ENSG00000182326" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C1S", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28306229", "30071989", "27745832", "31921203", "19155518", "20191570", "18062908", "11390518", "9856483" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174", "C1s deficiency MIM#613783" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1248", "gene_name": "complement C2", "omim_gene": [ "613927" ], "alias_name": null, "gene_symbol": "C2", "hgnc_symbol": "C2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31865562-31913449", "ensembl_id": "ENSG00000166278" } }, "GRch38": { "90": { "location": "6:31897785-31945672", "ensembl_id": "ENSG00000166278" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16026838", "8621452", "35272074", "32385807" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C2 deficiency MIM#217000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP586P0123" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24564", "gene_name": "C2 calcium dependent domain containing 3", "omim_gene": [ "615944" ], "alias_name": null, "gene_symbol": "C2CD3", "hgnc_symbol": "C2CD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73723763-73882255", "ensembl_id": "ENSG00000168014" } }, "GRch38": { "90": { "location": "11:74012714-74171210", "ensembl_id": "ENSG00000168014" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "C2CD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24997988", "26477546", "27094867", "30097616", "33875766" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Orofaciodigital syndrome XIV, MIM# 615948", "MONDO:0014413" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAMD1", "ARMD9", "C3a", "C3b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1318", "gene_name": "complement C3", "omim_gene": [ "120700" ], "alias_name": [ "C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3" ], "gene_symbol": "C3", "hgnc_symbol": "C3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6677715-6730573", "ensembl_id": "ENSG00000125730" } }, "GRch38": { "90": { "location": "19:6677704-6730562", "ensembl_id": "ENSG00000125730" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15781264", "1944729", "11813855", "26847111", "18796626", "34248927", "33691638" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C3 deficiency MIM#613779", "C3 deficiency MIM#613779", "{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC33365", "DIA1", "HASF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28490", "gene_name": "chromosome 3 open reading frame 58", "omim_gene": [ "612200" ], "alias_name": [ "deleted in autism 1", "hypoxia and Akt induced stem cell factor" ], "gene_symbol": "C3orf58", "hgnc_symbol": "C3orf58", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:143690640-143767561", "ensembl_id": "ENSG00000181744" } }, "GRch38": { "90": { "location": "3:143971798-144048719", "ensembl_id": "ENSG00000181744" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "C3orf58", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAMD2", "C4S", "CO4", "C4", "C4A3", "C4A2", "C4A4", "C4A6", "C4B", "RG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1323", "gene_name": "complement C4A (Rodgers blood group)", "omim_gene": [ "120810" ], "alias_name": null, "gene_symbol": "C4A", "hgnc_symbol": "C4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31949801-31970458", "ensembl_id": "ENSG00000244731" } }, "GRch38": { "90": { "location": "6:31982024-32002681", "ensembl_id": "ENSG00000244731" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C4A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22387014", "22737222", "15998580", "10529130", "15294999", "32048120", "40788338" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C4a deficiency MIM#614380", "susceptibility systemic lupus erythematosus" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAMD3", "C4F", "CO4", "C4B1", "C4B3", "CH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1324", "gene_name": "complement C4B (Chido blood group)", "omim_gene": [ "120820" ], "alias_name": null, "gene_symbol": "C4B", "hgnc_symbol": "C4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31982539-32003195", "ensembl_id": "ENSG00000224389" } }, "GRch38": { "90": { "location": "6:32014762-32035418", "ensembl_id": "ENSG00000224389" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C4B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34764957", "12626442", "22387014", "17503323", "32048120" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "susceptibility to autoimmune disease", "C4B deficiency MIM#614379" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAMD4", "C5a", "C5b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1331", "gene_name": "complement C5", "omim_gene": [ "120900" ], "alias_name": [ "prepro-C5", "C5a anaphylatoxin" ], "gene_symbol": "C5", "hgnc_symbol": "C5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123714616-123812554", "ensembl_id": "ENSG00000106804" } }, "GRch38": { "90": { "location": "9:120952335-121050276", "ensembl_id": "ENSG00000106804" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23743184", "15488949", "15778377", "23371790" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C5 deficiency MIM#609536" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1339", "gene_name": "complement C6", "omim_gene": [ "217050" ], "alias_name": null, "gene_symbol": "C6", "hgnc_symbol": "C6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:41142336-41261540", "ensembl_id": "ENSG00000039537" } }, "GRch38": { "90": { "location": "5:41142234-41261438", "ensembl_id": "ENSG00000039537" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23537992", "24378253", "17257682", "22668955", "32670577" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C6 deficiency MIM#612446" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1346", "gene_name": "complement C7", "omim_gene": [ "217070" ], "alias_name": null, "gene_symbol": "C7", "hgnc_symbol": "C7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:40909354-40983041", "ensembl_id": "ENSG00000112936" } }, "GRch38": { "90": { "location": "5:40909252-40982939", "ensembl_id": "ENSG00000112936" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22206826", "20591074", "17407100", "16771861", "16552475" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C7 deficiency MIM#610102" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1352", "gene_name": "complement C8 alpha chain", "omim_gene": [ "120950" ], "alias_name": null, "gene_symbol": "C8A", "hgnc_symbol": "C8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:57320479-57383894", "ensembl_id": "ENSG00000157131" } }, "GRch38": { "90": { "location": "1:56854806-56918221", "ensembl_id": "ENSG00000157131" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C8A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9759902", "32769119" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C8 deficiency, type I MIM#613790" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1353", "gene_name": "complement C8 beta chain", "omim_gene": [ "120960" ], "alias_name": null, "gene_symbol": "C8B", "hgnc_symbol": "C8B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:57394883-57431813", "ensembl_id": "ENSG00000021852" } }, "GRch38": { "90": { "location": "1:56929210-56966140", "ensembl_id": "ENSG00000021852" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C8B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8098723", "33563058", "27183977", "9476133", "19434484" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C8 deficiency, type II MIM#613789" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1354", "gene_name": "complement C8 gamma chain", "omim_gene": [ "120930" ], "alias_name": null, "gene_symbol": "C8G", "hgnc_symbol": "C8G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139839698-139841426", "ensembl_id": "ENSG00000176919" } }, "GRch38": { "90": { "location": "9:136945246-136946974", "ensembl_id": "ENSG00000176919" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "C8G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30600", "CORD16", "RP64", "BBS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27232", "gene_name": "chromosome 8 open reading frame 37", "omim_gene": [ "614477" ], "alias_name": null, "gene_symbol": "C8orf37", "hgnc_symbol": "C8orf37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:96257147-96281429", "ensembl_id": "ENSG00000156172" } }, "GRch38": { "90": { "location": "8:95244919-95269201", "ensembl_id": "ENSG00000156172" } } }, "hgnc_date_symbol_changed": "2005-07-27" }, "entity_type": "gene", "entity_name": "C8orf37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27008867", "26854863", "22177090", "25113443", "26865426", "25802487" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 21, MIM#617406", "Retinitis pigmentosa 64, MIM#614500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1358", "gene_name": "complement C9", "omim_gene": [ "120940" ], "alias_name": null, "gene_symbol": "C9", "hgnc_symbol": "C9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:39284364-39424970", "ensembl_id": "ENSG00000113600" } }, "GRch38": { "90": { "location": "5:39284262-39424868", "ensembl_id": "ENSG00000113600" } } }, "hgnc_date_symbol_changed": "1989-03-08" }, "entity_type": "gene", "entity_name": "C9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9570574", "9703418", "9144525", "31440263", "9634479" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C9 deficiency MIM#613825" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT18816" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1371", "gene_name": "carbonic anhydrase 12", "omim_gene": [ "603263" ], "alias_name": null, "gene_symbol": "CA12", "hgnc_symbol": "CA12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:63613577-63674360", "ensembl_id": "ENSG00000074410" } }, "GRch38": { "90": { "location": "15:63321378-63382161", "ensembl_id": "ENSG00000074410" } } }, "hgnc_date_symbol_changed": "1998-07-17" }, "entity_type": "gene", "entity_name": "CA12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21035102", "21184099", "26911677" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperchlorhidrosis, isolated MIM#143860" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Car2", "CA-II", "CAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1373", "gene_name": "carbonic anhydrase 2", "omim_gene": [ "611492" ], "alias_name": null, "gene_symbol": "CA2", "hgnc_symbol": "CA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:86376081-86393722", "ensembl_id": "ENSG00000104267" } }, "GRch38": { "90": { "location": "8:85463852-85481493", "ensembl_id": "ENSG00000104267" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34624559", "33555497", "12566520", "7627193" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAIV", "Car4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1375", "gene_name": "carbonic anhydrase 4", "omim_gene": [ "114760" ], "alias_name": null, "gene_symbol": "CA4", "hgnc_symbol": "CA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:58227297-58248260", "ensembl_id": "ENSG00000167434" } }, "GRch38": { "90": { "location": "17:60149936-60170899", "ensembl_id": "ENSG00000167434" } } }, "hgnc_date_symbol_changed": "1992-04-07" }, "entity_type": "gene", "entity_name": "CA4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15563508", "15090652", "17652713", "16260723" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinitis pigmentosa 17, MIM# 600852" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAV", "CAVA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1377", "gene_name": "carbonic anhydrase 5A", "omim_gene": [ "114761" ], "alias_name": null, "gene_symbol": "CA5A", "hgnc_symbol": "CA5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87921625-87970135", "ensembl_id": "ENSG00000174990" } }, "GRch38": { "90": { "location": "16:87881546-87936529", "ensembl_id": "ENSG00000174990" } } }, "hgnc_date_symbol_changed": "1993-10-15" }, "entity_type": "gene", "entity_name": "CA5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26913920", "32381389" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperammonemia due to carbonic anhydrase VA deficiency, 615751" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1382", "gene_name": "carbonic anhydrase 8", "omim_gene": [ "114815" ], "alias_name": null, "gene_symbol": "CA8", "hgnc_symbol": "CA8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:61099906-61193971", "ensembl_id": "ENSG00000178538" } }, "GRch38": { "90": { "location": "8:60187347-60281412", "ensembl_id": "ENSG00000178538" } } }, "hgnc_date_symbol_changed": "1993-07-08" }, "entity_type": "gene", "entity_name": "CA8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1385", "gene_name": "calcium binding protein 2", "omim_gene": [ "607314" ], "alias_name": null, "gene_symbol": "CABP2", "hgnc_symbol": "CABP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67286383-67290899", "ensembl_id": "ENSG00000167791" } }, "GRch38": { "90": { "location": "11:67518912-67524517", "ensembl_id": "ENSG00000167791" } } }, "hgnc_date_symbol_changed": "2000-07-28" }, "entity_type": "gene", "entity_name": "CABP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22981119", "31661684", "28183797" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 93, MIM# 614899" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CSNB2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1386", "gene_name": "calcium binding protein 4", "omim_gene": [ "608965" ], "alias_name": null, "gene_symbol": "CABP4", "hgnc_symbol": "CABP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67219877-67226699", "ensembl_id": "ENSG00000175544" } }, "GRch38": { "90": { "location": "11:67452406-67460313", "ensembl_id": "ENSG00000175544" } } }, "hgnc_date_symbol_changed": "2000-08-31" }, "entity_type": "gene", "entity_name": "CABP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16960802", "19074807", "20157620" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav2.1", "EA2", "APCA", "HPCA", "FHM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1388", "gene_name": "calcium voltage-gated channel subunit alpha1 A", "omim_gene": [ "601011" ], "alias_name": null, "gene_symbol": "CACNA1A", "hgnc_symbol": "CACNA1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:13317256-13734804", "ensembl_id": "ENSG00000141837" } }, "GRch38": { "90": { "location": "19:13206442-13633025", "ensembl_id": "ENSG00000141837" } } }, "hgnc_date_symbol_changed": "1996-06-18" }, "entity_type": "gene", "entity_name": "CACNA1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34267336" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental and epileptic encephalopathy 42, MIM# 617106" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav2.2", "CACNN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1389", "gene_name": "calcium voltage-gated channel subunit alpha1 B", "omim_gene": [ "601012" ], "alias_name": null, "gene_symbol": "CACNA1B", "hgnc_symbol": "CACNA1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140772241-141019076", "ensembl_id": "ENSG00000148408" } }, "GRch38": { "90": { "location": "9:137877789-138124624", "ensembl_id": "ENSG00000148408" } } }, "hgnc_date_symbol_changed": "1995-06-01" }, "entity_type": "gene", "entity_name": "CACNA1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30982612" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.3", "CACH3", "CACN4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1391", "gene_name": "calcium voltage-gated channel subunit alpha1 D", "omim_gene": [ "114206" ], "alias_name": null, "gene_symbol": "CACNA1D", "hgnc_symbol": "CACNA1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53528683-53847760", "ensembl_id": "ENSG00000157388" } }, "GRch38": { "90": { "location": "3:53328963-53813733", "ensembl_id": "ENSG00000157388" } } }, "hgnc_date_symbol_changed": "1991-12-12" }, "entity_type": "gene", "entity_name": "CACNA1D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23913001", "32336187", "30698561", "21131953", "15357422", "22678062" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474", "MONDO:0014200", "Sinoatrial node dysfunction and deafness, MIM# 614896" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav2.3", "BII", "CACH6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1392", "gene_name": "calcium voltage-gated channel subunit alpha1 E", "omim_gene": [ "601013" ], "alias_name": null, "gene_symbol": "CACNA1E", "hgnc_symbol": "CACNA1E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:181382238-181777219", "ensembl_id": "ENSG00000198216" } }, "GRch38": { "90": { "location": "1:181413102-181808084", "ensembl_id": "ENSG00000198216" } } }, "hgnc_date_symbol_changed": "1994-12-20" }, "entity_type": "gene", "entity_name": "CACNA1E", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30343943" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 69, MIM#618285" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.4", "JM8", "JMC8", "CSNBX2", "CORDX3", "CSNB2A", "OA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1393", "gene_name": "calcium voltage-gated channel subunit alpha1 F", "omim_gene": [ "300110" ], "alias_name": null, "gene_symbol": "CACNA1F", "hgnc_symbol": "CACNA1F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:49061523-49089833", "ensembl_id": "ENSG00000102001" } }, "GRch38": { "90": { "location": "X:49205063-49233371", "ensembl_id": "ENSG00000102001" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CACNA1F", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17525176", "16505158", "23776498", "24124559", "26075273", "25999675" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aland Island eye disease MIM#300600", "Cone-rod dystrophy, X-linked, 3 MIM#300476", "Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav3.1", "NBR13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1394", "gene_name": "calcium voltage-gated channel subunit alpha1 G", "omim_gene": [ "604065" ], "alias_name": null, "gene_symbol": "CACNA1G", "hgnc_symbol": "CACNA1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48638429-48704835", "ensembl_id": "ENSG00000006283" } }, "GRch38": { "90": { "location": "17:50561068-50627474", "ensembl_id": "ENSG00000006283" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29878067" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav3.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1395", "gene_name": "calcium voltage-gated channel subunit alpha1 H", "omim_gene": [ "607904" ], "alias_name": null, "gene_symbol": "CACNA1H", "hgnc_symbol": "CACNA1H", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1203241-1271771", "ensembl_id": "ENSG00000196557" } }, "GRch38": { "90": { "location": "16:1153121-1221772", "ensembl_id": "ENSG00000196557" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1H", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27729216", "25907736", "31126930", "16754686", "32571372" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperaldosteronism, familial, type IV MIM#617027", "MONDO:0014875" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0558" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1400", "gene_name": "calcium voltage-gated channel auxiliary subunit alpha2delta 2", "omim_gene": [ "607082" ], "alias_name": [ "gene 26" ], "gene_symbol": "CACNA2D2", "hgnc_symbol": "CACNA2D2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50400233-50541675", "ensembl_id": "ENSG00000007402" } }, "GRch38": { "90": { "location": "3:50362799-50504244", "ensembl_id": "ENSG00000007402" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "CACNA2D2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23339110", "24358150", "30410802", "29997391", "31402629", "11487633", "11756448", "4177347", "14660671", "15331424" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebellar atrophy with seizures and variable developmental delay MIM#618501" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSA272268" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15460", "gene_name": "calcium voltage-gated channel auxiliary subunit alpha2delta 3", "omim_gene": [ "606399" ], "alias_name": null, "gene_symbol": "CACNA2D3", "hgnc_symbol": "CACNA2D3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:54156574-55108584", "ensembl_id": "ENSG00000157445" } }, "GRch38": { "90": { "location": "3:54122547-55074557", "ensembl_id": "ENSG00000157445" } } }, "hgnc_date_symbol_changed": "2001-07-03" }, "entity_type": "gene", "entity_name": "CACNA2D3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31275518", "22542183", "23375656" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20202", "gene_name": "calcium voltage-gated channel auxiliary subunit alpha2delta 4", "omim_gene": [ "608171" ], "alias_name": null, "gene_symbol": "CACNA2D4", "hgnc_symbol": "CACNA2D4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:1901123-2028002", "ensembl_id": "ENSG00000151062" } }, "GRch38": { "90": { "location": "12:1791957-1918836", "ensembl_id": "ENSG00000151062" } } }, "hgnc_date_symbol_changed": "2003-01-06" }, "entity_type": "gene", "entity_name": "CACNA2D4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17033974", "26560832", "26560832", "33927996", "34996991" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinal cone dystrophy 4 MIM#610478" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EJM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1404", "gene_name": "calcium voltage-gated channel auxiliary subunit beta 4", "omim_gene": [ "601949" ], "alias_name": null, "gene_symbol": "CACNB4", "hgnc_symbol": "CACNB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:152689290-152955593", "ensembl_id": "ENSG00000182389" } }, "GRch38": { "90": { "location": "2:151832768-152099475", "ensembl_id": "ENSG00000182389" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CACNB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10762541", "9628818", "27003325" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM#\t607682", "{Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682", "Episodic ataxia, type 5, MIM#613855" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "stargazin", "MGC138502", "MGC138504" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1406", "gene_name": "calcium voltage-gated channel auxiliary subunit gamma 2", "omim_gene": [ "602911" ], "alias_name": null, "gene_symbol": "CACNG2", "hgnc_symbol": "CACNG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:36959968-37099603", "ensembl_id": "ENSG00000166862" } }, "GRch38": { "90": { "location": "22:36563921-36703558", "ensembl_id": "ENSG00000166862" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "CACNG2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21376300" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 10, MIM#614256" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAMI", "PHKD", "DD132" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1442", "gene_name": "calmodulin 1", "omim_gene": [ "114180" ], "alias_name": [ "prepro-calmodulin 1", "phosphorylase kinase subunit delta" ], "gene_symbol": "CALM1", "hgnc_symbol": "CALM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:90862846-90874605", "ensembl_id": "ENSG00000198668" } }, "GRch38": { "90": { "location": "14:90396502-90408261", "ensembl_id": "ENSG00000198668" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "CALM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31170290" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Long QT syndrome 14 MIM#616247", "Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PHKD", "CAMII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1445", "gene_name": "calmodulin 2", "omim_gene": [ "114182" ], "alias_name": [ "prepro-calmodulin 2", "phosphorylase kinase subunit delta" ], "gene_symbol": "CALM2", "hgnc_symbol": "CALM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47387221-47403740", "ensembl_id": "ENSG00000143933" } }, "GRch38": { "90": { "location": "2:47160082-47176601", "ensembl_id": "ENSG00000143933" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "CALM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Long QT syndrome 15 MIM#616249", "CPVT" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PHKD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1449", "gene_name": "calmodulin 3", "omim_gene": [ "114183" ], "alias_name": [ "prepro-calmodulin 3", "phosphorylase kinase subunit delta" ], "gene_symbol": "CALM3", "hgnc_symbol": "CALM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47104331-47114050", "ensembl_id": "ENSG00000160014" } }, "GRch38": { "90": { "location": "19:46601074-46610793", "ensembl_id": "ENSG00000160014" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "CALM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Long QT syndrome 16 MIM#618782", "CPVT" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRT2", "FLJ25355", "MGC26577", "CT93" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20407", "gene_name": "calreticulin 3", "omim_gene": [ "611414" ], "alias_name": [ "cancer/testis antigen 93", "calsperin" ], "gene_symbol": "CALR3", "hgnc_symbol": "CALR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:16589868-16607003", "ensembl_id": "ENSG00000269058" } }, "GRch38": { "90": { "location": "19:16479057-16496192", "ensembl_id": "ENSG00000269058" } } }, "hgnc_date_symbol_changed": "2003-02-04" }, "entity_type": "gene", "entity_name": "CALR3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29988065" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypertrophic cardiomyopathy, MONDO:0005045" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1458", "gene_name": "calumenin", "omim_gene": [ "603420" ], "alias_name": null, "gene_symbol": "CALU", "hgnc_symbol": "CALU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:128379346-128411861", "ensembl_id": "ENSG00000128595" } }, "GRch38": { "90": { "location": "7:128739292-128771807", "ensembl_id": "ENSG00000128595" } } }, "hgnc_date_symbol_changed": "1997-07-25" }, "entity_type": "gene", "entity_name": "CALU", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0968", "CaMKIINalpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1460", "gene_name": "calcium/calmodulin dependent protein kinase II alpha", "omim_gene": [ "114078" ], "alias_name": [ "CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain" ], "gene_symbol": "CAMK2A", "hgnc_symbol": "CAMK2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149599054-149669854", "ensembl_id": "ENSG00000070808" } }, "GRch38": { "90": { "location": "5:150219491-150290291", "ensembl_id": "ENSG00000070808" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32600977", "29784083", "29560374" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 63 MIM#618095", "Mental retardation, autosomal dominant 53 MIM#617798" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAM2", "CAMK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1461", "gene_name": "calcium/calmodulin dependent protein kinase II beta", "omim_gene": [ "607707" ], "alias_name": [ "CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase" ], "gene_symbol": "CAMK2B", "hgnc_symbol": "CAMK2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44256749-44374176", "ensembl_id": "ENSG00000058404" } }, "GRch38": { "90": { "location": "7:44217150-44334577", "ensembl_id": "ENSG00000058404" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29100089", "29560374", "32875707" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 54, MIM# 617799" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0833" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18806", "gene_name": "calmodulin binding transcription activator 1", "omim_gene": [ "611501" ], "alias_name": null, "gene_symbol": "CAMTA1", "hgnc_symbol": "CAMTA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:6845384-7829766", "ensembl_id": "ENSG00000171735" } }, "GRch38": { "90": { "location": "1:6785324-7769706", "ensembl_id": "ENSG00000171735" } } }, "hgnc_date_symbol_changed": "2002-06-20" }, "entity_type": "gene", "entity_name": "CAMTA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32157189", "22693284" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SHAPY", "SCAN-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19721", "gene_name": "calcium activated nucleotidase 1", "omim_gene": [ "613165" ], "alias_name": [ "Soluble Ca-Activated Nucleotidase, isozyme 1" ], "gene_symbol": "CANT1", "hgnc_symbol": "CANT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:76987799-77005949", "ensembl_id": "ENSG00000171302" } }, "GRch38": { "90": { "location": "17:78991717-79009867", "ensembl_id": "ENSG00000171302" } } }, "hgnc_date_symbol_changed": "2004-10-15" }, "entity_type": "gene", "entity_name": "CANT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19853239", "21037275", "28742282" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Desbuquois dysplasia 1 MIM#251450", "Epiphyseal dysplasia, multiple, 7, MIM# 617719" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "muCANP", "muCL", "CANP", "CANPL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1476", "gene_name": "calpain 1", "omim_gene": [ "114220" ], "alias_name": null, "gene_symbol": "CAPN1", "hgnc_symbol": "CAPN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64948037-64979477", "ensembl_id": "ENSG00000014216" } }, "GRch38": { "90": { "location": "11:65180566-65212006", "ensembl_id": "ENSG00000014216" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "CAPN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27153400", "27320912", "29678961", "30572172", "31023339", "31104286" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 76, autosomal recessive, MIM#616907", "MONDO:0014827" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1477", "gene_name": "calpain 10", "omim_gene": [ "605286" ], "alias_name": null, "gene_symbol": "CAPN10", "hgnc_symbol": "CAPN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:241526133-241557122", "ensembl_id": "ENSG00000142330" } }, "GRch38": { "90": { "location": "2:240586716-240617705", "ensembl_id": "ENSG00000142330" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "CAPN10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31791003", "31292430" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Diabetes mellitus, noninsulin-dependent 1}\t601283" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CANP3", "p94", "nCL-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1480", "gene_name": "calpain 3", "omim_gene": [ "114240" ], "alias_name": null, "gene_symbol": "CAPN3", "hgnc_symbol": "CAPN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:42640301-42704516", "ensembl_id": "ENSG00000092529" } }, "GRch38": { "90": { "location": "15:42359500-42412318", "ensembl_id": "ENSG00000092529" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "CAPN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31937337", "28881388", "32342993", "32557990" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129", "Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nCL-3", "HTRA3", "ADNIV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1482", "gene_name": "calpain 5", "omim_gene": [ "602537" ], "alias_name": null, "gene_symbol": "CAPN5", "hgnc_symbol": "CAPN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:76777979-76837201", "ensembl_id": "ENSG00000149260" } }, "GRch38": { "90": { "location": "11:77066932-77126155", "ensembl_id": "ENSG00000149260" } } }, "hgnc_date_symbol_changed": "1997-11-05" }, "entity_type": "gene", "entity_name": "CAPN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23055945", "32274441", "31110225", "30986125" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vitreoretinopathy, neovascular inflammatory, MIM# 193235" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CARMA1", "BIMP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16393", "gene_name": "caspase recruitment domain family member 11", "omim_gene": [ "607210" ], "alias_name": [ "card-maguk protein 1", "bcl10-interacting maguk protein 3" ], "gene_symbol": "CARD11", "hgnc_symbol": "CARD11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:2945775-3083579", "ensembl_id": "ENSG00000198286" } }, "GRch38": { "90": { "location": "7:2906141-3043945", "ensembl_id": "ENSG00000198286" } } }, "hgnc_date_symbol_changed": "2001-08-13" }, "entity_type": "gene", "entity_name": "CARD11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23561803", "12818158", "23374270", "28628108" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 11A, autosomal recessive, MIM# 615206", "Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CARMA2", "BIMP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16446", "gene_name": "caspase recruitment domain family member 14", "omim_gene": [ "607211" ], "alias_name": null, "gene_symbol": "CARD14", "hgnc_symbol": "CARD14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78143791-78183130", "ensembl_id": "ENSG00000141527" } }, "GRch38": { "90": { "location": "17:80169992-80209331", "ensembl_id": "ENSG00000141527" } } }, "hgnc_date_symbol_changed": "2002-09-19" }, "entity_type": "gene", "entity_name": "CARD14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22703878", "27760266" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pityriasis rubra pilaris (MIM#173200)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16391", "gene_name": "caspase recruitment domain family member 9", "omim_gene": [ "607212" ], "alias_name": null, "gene_symbol": "CARD9", "hgnc_symbol": "CARD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139256355-139268133", "ensembl_id": "ENSG00000187796" } }, "GRch38": { "90": { "location": "9:136361903-136373681", "ensembl_id": "ENSG00000187796" } } }, "hgnc_date_symbol_changed": "2001-08-13" }, "entity_type": "gene", "entity_name": "CARD9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19864672", "23335372", "24131138", "33789983", "33558980", "33180249" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Candidiasis, familial, 2, autosomal recessive, MIM# 212050", "Predisposition to invasive fungal disease, MONDO:0008905" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LRRC16C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27089", "gene_name": "capping protein regulator and myosin 1 linker 2", "omim_gene": [ "610859" ], "alias_name": [ "RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C" ], "gene_symbol": "CARMIL2", "hgnc_symbol": "CARMIL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67678822-67691472", "ensembl_id": "ENSG00000159753" } }, "GRch38": { "90": { "location": "16:67644919-67657569", "ensembl_id": "ENSG00000159753" } } }, "hgnc_date_symbol_changed": "2016-04-22" }, "entity_type": "gene", "entity_name": "CARMIL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29479355", "28112205", "27896283", "33723309" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 58, MIM# 618131", "Early onset paediatric inflammatory bowel disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12118" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25695", "gene_name": "cysteinyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612800" ], "alias_name": [ "cysteine tRNA ligase 2, mitochondrial (putative)" ], "gene_symbol": "CARS2", "hgnc_symbol": "CARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:111293759-111365950", "ensembl_id": "ENSG00000134905" } }, "GRch38": { "90": { "location": "13:110641412-110713603", "ensembl_id": "ENSG00000134905" } } }, "hgnc_date_symbol_changed": "2007-01-24" }, "entity_type": "gene", "entity_name": "CARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25361775", "25787132", "30139652" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 27, MIM# 616672", "MONDO:0014728" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LIN2", "CAGH39", "FGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1497", "gene_name": "calcium/calmodulin dependent serine protein kinase", "omim_gene": [ "300172" ], "alias_name": null, "gene_symbol": "CASK", "hgnc_symbol": "CASK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41374187-41782716", "ensembl_id": "ENSG00000147044" } }, "GRch38": { "90": { "location": "X:41514934-41923463", "ensembl_id": "ENSG00000147044" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "CASK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24278995" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "FG syndrome 4 MIM#300422", "Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749", "Mental retardation, with or without nystagmus MIM#300422" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1500", "gene_name": "caspase 10", "omim_gene": [ "601762" ], "alias_name": null, "gene_symbol": "CASP10", "hgnc_symbol": "CASP10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202047604-202094129", "ensembl_id": "ENSG00000003400" } }, "GRch38": { "90": { "location": "2:201182881-201229406", "ensembl_id": "ENSG00000003400" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CASP10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34329798", "34384744", "20301287" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoimmune lymphoproliferative syndrome, type II MIM#603909" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCH5", "MACH", "FLICE", "Casp-8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1509", "gene_name": "caspase 8", "omim_gene": [ "601763" ], "alias_name": null, "gene_symbol": "CASP8", "hgnc_symbol": "CASP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202098166-202152434", "ensembl_id": "ENSG00000064012" } }, "GRch38": { "90": { "location": "2:201233443-201287711", "ensembl_id": "ENSG00000064012" } } }, "hgnc_date_symbol_changed": "1996-11-11" }, "entity_type": "gene", "entity_name": "CASP8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12353035", "25814141", "12654726", "17213198", "16148088", "41026346" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoimmune lymphoproliferative syndrome, type IIB MIM#607271" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PDIB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1512", "gene_name": "calsequestrin 1", "omim_gene": [ "114250" ], "alias_name": [ "calsequestrin 1, fast-twitch, skeletal muscle", "calmitine" ], "gene_symbol": "CASQ1", "hgnc_symbol": "CASQ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160160285-160171676", "ensembl_id": "ENSG00000143318" } }, "GRch38": { "90": { "location": "1:160190556-160201886", "ensembl_id": "ENSG00000143318" } } }, "hgnc_date_symbol_changed": "1990-08-23" }, "entity_type": "gene", "entity_name": "CASQ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26136523", "30258016" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, vacuolar, with CASQ1 aggregates MIM#616231" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FHH", "NSHPT", "GPRC2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1514", "gene_name": "calcium sensing receptor", "omim_gene": [ "601199" ], "alias_name": [ "severe neonatal hyperparathyroidism" ], "gene_symbol": "CASR", "hgnc_symbol": "CASR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:121902530-122005342", "ensembl_id": "ENSG00000036828" } }, "GRch38": { "90": { "location": "3:122183683-122291629", "ensembl_id": "ENSG00000036828" } } }, "hgnc_date_symbol_changed": "1992-12-04" }, "entity_type": "gene", "entity_name": "CASR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7916660", "7726161", "8675635", "17698911", "22620673", "26646938", "22422767" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperparathyroidism, neonatal MIM#239200", "Hypocalcemia, autosomal dominant MIM#601198", "Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198", "hypercalcemia, type I MIM#145980" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1515", "gene_name": "calpastatin", "omim_gene": [ "114090" ], "alias_name": null, "gene_symbol": "CAST", "hgnc_symbol": "CAST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:95860971-96115299", "ensembl_id": "ENSG00000153113" } }, "GRch38": { "90": { "location": "5:96525267-96779595", "ensembl_id": "ENSG00000153113" } } }, "hgnc_date_symbol_changed": "1990-07-03" }, "entity_type": "gene", "entity_name": "CAST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25683118", "31392520", "30656735", "28851602" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1516", "gene_name": "catalase", "omim_gene": [ "115500" ], "alias_name": null, "gene_symbol": "CAT", "hgnc_symbol": "CAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:34460472-34493609", "ensembl_id": "ENSG00000121691" } }, "GRch38": { "90": { "location": "11:34438925-34472062", "ensembl_id": "ENSG00000121691" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24025477" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Acatalasemia MIM#614097", "hypocatalasemia" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CATSPER" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17116", "gene_name": "cation channel sperm associated 1", "omim_gene": [ "606389" ], "alias_name": null, "gene_symbol": "CATSPER1", "hgnc_symbol": "CATSPER1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65784223-65793988", "ensembl_id": "ENSG00000175294" } }, "GRch38": { "90": { "location": "11:66016752-66026517", "ensembl_id": "ENSG00000175294" } } }, "hgnc_date_symbol_changed": "2002-06-20" }, "entity_type": "gene", "entity_name": "CATSPER1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19344877", "25457194", "19210926" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spermatogenic failure 7 MIM#612997" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18810", "gene_name": "cation channel sperm associated 2", "omim_gene": [ "607249" ], "alias_name": null, "gene_symbol": "CATSPER2", "hgnc_symbol": "CATSPER2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43920701-43960316", "ensembl_id": "ENSG00000166762" } }, "GRch38": { "90": { "location": "15:43628503-43668118", "ensembl_id": "ENSG00000166762" } } }, "hgnc_date_symbol_changed": "2002-06-20" }, "entity_type": "gene", "entity_name": "CATSPER2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17098888", "30629171", "12825070" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "spermatogenic failure", "non-syndromic hearing loss" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1527", "gene_name": "caveolin 1", "omim_gene": [ "601047" ], "alias_name": null, "gene_symbol": "CAV1", "hgnc_symbol": "CAV1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:116164839-116201233", "ensembl_id": "ENSG00000105974" } }, "GRch38": { "90": { "location": "7:116524785-116561184", "ensembl_id": "ENSG00000105974" } } }, "hgnc_date_symbol_changed": "1993-11-02" }, "entity_type": "gene", "entity_name": "CAV1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18237401", "25898808", "11739396", "18211975", "27717241", "26176221", "33836561", "33776068", "32502478", "22474227", "28768485", "18541701", "34643546", "12660144" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721", "Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VIP-21", "LGMD1C", "VIP21", "LQT9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1529", "gene_name": "caveolin 3", "omim_gene": [ "601253" ], "alias_name": [ "M-caveolin" ], "gene_symbol": "CAV3", "hgnc_symbol": "CAV3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:8775486-8883492", "ensembl_id": "ENSG00000182533" } }, "GRch38": { "90": { "location": "3:8733800-8841808", "ensembl_id": "ENSG00000182533" } } }, "hgnc_date_symbol_changed": "1998-05-14" }, "entity_type": "gene", "entity_name": "CAV3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32004987", "28807458", "27312022", "10746614" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, distal, Tateyama type MIM#614321", "Rippling muscle disease 2 MIM#606072", "Creatine phosphokinase, elevated serum MIM#123320" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cavin-1", "CGL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9688", "gene_name": "caveolae associated protein 1", "omim_gene": [ "603198" ], "alias_name": [ "congenital generalized lipodystrophy 4" ], "gene_symbol": "CAVIN1", "hgnc_symbol": "CAVIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40554470-40575535", "ensembl_id": "ENSG00000177469" } }, "GRch38": { "90": { "location": "17:42402452-42423517", "ensembl_id": "ENSG00000177469" } } }, "hgnc_date_symbol_changed": "2017-03-24" }, "entity_type": "gene", "entity_name": "CAVIN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19726876", "20300641", "20684003", "18840361" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lipodystrophy, congenital generalized, type 4, MIM# 613327", "MONDO:0013225" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNF55", "c-Cbl" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1541", "gene_name": "Cbl proto-oncogene", "omim_gene": [ "165360" ], "alias_name": [ "oncogene CBL2" ], "gene_symbol": "CBL", "hgnc_symbol": "CBL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119076752-119178859", "ensembl_id": "ENSG00000110395" } }, "GRch38": { "90": { "location": "11:119206276-119313926", "ensembl_id": "ENSG00000110395" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "CBL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "25358541", "20619386", "20543203", "20694012" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HIP4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1550", "gene_name": "cystathionine-beta-synthase", "omim_gene": [ "613381" ], "alias_name": null, "gene_symbol": "CBS", "hgnc_symbol": "CBS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:44473301-44497053", "ensembl_id": "ENSG00000160200" } }, "GRch38": { "90": { "location": "21:43053191-43076943", "ensembl_id": "ENSG00000160200" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CBS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7506602", "10338090" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Homocystinuria, B6-responsive and nonresponsive types, 236200", "Thrombosis, hyperhomocysteinemic, 236200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC10561" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1552", "gene_name": "chromobox 2", "omim_gene": [ "602770" ], "alias_name": [ "Pc class homolog (Drosophila)" ], "gene_symbol": "CBX2", "hgnc_symbol": "CBX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:77751931-77761782", "ensembl_id": "ENSG00000173894" } }, "GRch38": { "90": { "location": "17:79778132-79787983", "ensembl_id": "ENSG00000173894" } } }, "hgnc_date_symbol_changed": "1994-05-25" }, "entity_type": "gene", "entity_name": "CBX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19361780", "31719618", "23219007" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "46XY sex reversal 5, MIM# 613080" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20241", "MRT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30237", "gene_name": "coiled-coil and C2 domain containing 1A", "omim_gene": [ "610055" ], "alias_name": [ "mental retardation, nonsyndromic, autosomal recessive, 3" ], "gene_symbol": "CC2D1A", "hgnc_symbol": "CC2D1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14017014-14041692", "ensembl_id": "ENSG00000132024" } }, "GRch38": { "90": { "location": "19:13906201-13930879", "ensembl_id": "ENSG00000132024" } } }, "hgnc_date_symbol_changed": "2005-07-05" }, "entity_type": "gene", "entity_name": "CC2D1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25066123" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 3, MIM# 608443" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1345", "MKS6", "JBTS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29253", "gene_name": "coiled-coil and C2 domain containing 2A", "omim_gene": [ "612013" ], "alias_name": [ "Meckel syndrome, type 6" ], "gene_symbol": "CC2D2A", "hgnc_symbol": "CC2D2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15471489-15603180", "ensembl_id": "ENSG00000048342" } }, "GRch38": { "90": { "location": "4:15469865-15601557", "ensembl_id": "ENSG00000048342" } } }, "hgnc_date_symbol_changed": "2007-10-19" }, "entity_type": "gene", "entity_name": "CC2D2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18387594", "18950740", "18513680", "18950740", "19574260", "21725307", "33486889", "30267408" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 9, MIM# 612285", "Meckel syndrome 6, MIM# 612284", "COACH syndrome 2, MIM# 619111" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30681", "KIAA1983" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29426", "gene_name": "collagen and calcium binding EGF domains 1", "omim_gene": [ "612753" ], "alias_name": null, "gene_symbol": "CCBE1", "hgnc_symbol": "CCBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:57098172-57364612", "ensembl_id": "ENSG00000183287" } }, "GRch38": { "90": { "location": "18:59430940-59697380", "ensembl_id": "ENSG00000183287" } } }, "hgnc_date_symbol_changed": "2005-01-18" }, "entity_type": "gene", "entity_name": "CCBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19935664", "19911200", "19287381", "25925991", "27345729", "21778431" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510", "lymphangiectasia and lymphoedema", "facial abnormalities", "dysmorphic features", "hypoalbuminaemia", "intellectual disability", "hypoglobulinaemia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13094", "FLJ34211", "PR46b", "CILD17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32700", "gene_name": "coiled-coil domain containing 103", "omim_gene": [ "614677" ], "alias_name": null, "gene_symbol": "CCDC103", "hgnc_symbol": "CCDC103", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42976510-42982758", "ensembl_id": "ENSG00000167131" } }, "GRch38": { "90": { "location": "17:44899142-44905390", "ensembl_id": "ENSG00000167131" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "CCDC103", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22581229", "32447765", "31858719", "28790179" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 17, MIM# 614679" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32926", "CILD20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26560", "gene_name": "coiled-coil domain containing 114", "omim_gene": [ "615038" ], "alias_name": null, "gene_symbol": "CCDC114", "hgnc_symbol": "CCDC114", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:48799714-48825151", "ensembl_id": "ENSG00000105479" } }, "GRch38": { "90": { "location": "19:48296457-48321894", "ensembl_id": "ENSG00000105479" } } }, "hgnc_date_symbol_changed": "2006-06-21" }, "entity_type": "gene", "entity_name": "CCDC114", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23261303", "23261302", "32855706", "23506398" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 20, MIM# 615067" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC12981", "FLJ30131", "ccp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28178", "gene_name": "coiled-coil domain containing 115", "omim_gene": [ "613734" ], "alias_name": null, "gene_symbol": "CCDC115", "hgnc_symbol": "CCDC115", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:131095814-131099922", "ensembl_id": "ENSG00000136710" } }, "GRch38": { "90": { "location": "2:130338241-130342349", "ensembl_id": "ENSG00000136710" } } }, "hgnc_date_symbol_changed": "2006-07-03" }, "entity_type": "gene", "entity_name": "CCDC115", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26833332" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIo (MIM# 616828)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC20983" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28303", "gene_name": "coiled-coil domain containing 151", "omim_gene": [ "615956" ], "alias_name": null, "gene_symbol": "CCDC151", "hgnc_symbol": "CCDC151", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11531272-11546603", "ensembl_id": "ENSG00000198003" } }, "GRch38": { "90": { "location": "19:11420604-11435782", "ensembl_id": "ENSG00000198003" } } }, "hgnc_date_symbol_changed": "2008-04-10" }, "entity_type": "gene", "entity_name": "CCDC151", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25192045", "25224326", "32490514", "32286033", "30504913" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 30, MIM# 616037" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28909", "gene_name": "coiled-coil domain containing 22", "omim_gene": [ "300859" ], "alias_name": null, "gene_symbol": "CCDC22", "hgnc_symbol": "CCDC22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:49091927-49106987", "ensembl_id": "ENSG00000101997" } }, "GRch38": { "90": { "location": "X:49235467-49250526", "ensembl_id": "ENSG00000101997" } } }, "hgnc_date_symbol_changed": "2005-07-24" }, "entity_type": "gene", "entity_name": "CCDC22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21826058", "24916641", "34020006", "33059814", "31971710" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ritscher-Schinzel syndrome 2, MIM# 300963" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC1203", "RP4-622L5.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28163", "gene_name": "coiled-coil domain containing 28B", "omim_gene": [ "610162" ], "alias_name": null, "gene_symbol": "CCDC28B", "hgnc_symbol": "CCDC28B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:32665987-32670988", "ensembl_id": "ENSG00000160050" } }, "GRch38": { "90": { "location": "1:32200386-32205387", "ensembl_id": "ENSG00000160050" } } }, "hgnc_date_symbol_changed": "2005-09-12" }, "entity_type": "gene", "entity_name": "CCDC28B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Bardet-Biedl syndrome 1, modifier of}, MIM#209900" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp434A128", "CILD14", "FAP59" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25244", "gene_name": "coiled-coil domain containing 39", "omim_gene": [ "613798" ], "alias_name": null, "gene_symbol": "CCDC39", "hgnc_symbol": "CCDC39", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:180320646-180588793", "ensembl_id": "ENSG00000145075" } }, "GRch38": { "90": { "location": "3:180602858-180871005", "ensembl_id": "ENSG00000145075" } } }, "hgnc_date_symbol_changed": "2005-11-11" }, "entity_type": "gene", "entity_name": "CCDC39", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131972", "23255504" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 14, MIM# 613807" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20753", "KIAA1640", "FLJ32021", "CILD15", "FAP172" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26090", "gene_name": "coiled-coil domain containing 40", "omim_gene": [ "613799" ], "alias_name": null, "gene_symbol": "CCDC40", "hgnc_symbol": "CCDC40", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78010435-78074412", "ensembl_id": "ENSG00000141519" } }, "GRch38": { "90": { "location": "17:80036632-80100613", "ensembl_id": "ENSG00000141519" } } }, "hgnc_date_symbol_changed": "2005-12-13" }, "entity_type": "gene", "entity_name": "CCDC40", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131974", "23255504", "31879361", "31765523", "31650533" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 15, MIM#613808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Ymer" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18111", "gene_name": "coiled-coil domain containing 50", "omim_gene": [ "611051" ], "alias_name": null, "gene_symbol": "CCDC50", "hgnc_symbol": "CCDC50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:191046866-191116459", "ensembl_id": "ENSG00000152492" } }, "GRch38": { "90": { "location": "3:191329077-191398670", "ensembl_id": "ENSG00000152492" } } }, "hgnc_date_symbol_changed": "2005-12-23" }, "entity_type": "gene", "entity_name": "CCDC50", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17503326", "27911912", "24875298" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal dominant 44 MIM#607453" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NYD-SP28", "FLJ35732", "FAP250", "CFAP250", "CILD27", "DRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29937", "gene_name": "coiled-coil domain containing 65", "omim_gene": [ "611088" ], "alias_name": null, "gene_symbol": "CCDC65", "hgnc_symbol": "CCDC65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49297893-49325623", "ensembl_id": "ENSG00000139537" } }, "GRch38": { "90": { "location": "12:48904110-48931840", "ensembl_id": "ENSG00000139537" } } }, "hgnc_date_symbol_changed": "2006-01-26" }, "entity_type": "gene", "entity_name": "CCDC65", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23991085", "24094744" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 27, MIM# 615504" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ34512" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14153", "gene_name": "coiled-coil domain containing 78", "omim_gene": [ "614666" ], "alias_name": null, "gene_symbol": "CCDC78", "hgnc_symbol": "CCDC78", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:772582-776954", "ensembl_id": "ENSG00000162004" } }, "GRch38": { "90": { "location": "16:722582-726954", "ensembl_id": "ENSG00000162004" } } }, "hgnc_date_symbol_changed": "2006-02-20" }, "entity_type": "gene", "entity_name": "CCDC78", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22818856" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Centronuclear myopathy 4, MIM#614807" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp564K0322", "3M3", "PPP1R20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25367", "gene_name": "coiled-coil domain containing 8", "omim_gene": [ "614145" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 20" ], "gene_symbol": "CCDC8", "hgnc_symbol": "CCDC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46913629-46916841", "ensembl_id": "ENSG00000169515" } }, "GRch38": { "90": { "location": "19:46410372-46413584", "ensembl_id": "ENSG00000169515" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "CCDC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21737058" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-M syndrome 3, MIM#614205" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10392", "APE", "GIV", "HkRP1", "GRDN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25523", "gene_name": "coiled-coil domain containing 88A", "omim_gene": [ "609736" ], "alias_name": [ "Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments" ], "gene_symbol": "CCDC88A", "hgnc_symbol": "CCDC88A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:55514978-55647057", "ensembl_id": "ENSG00000115355" } }, "GRch38": { "90": { "location": "2:55287842-55419921", "ensembl_id": "ENSG00000115355" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26917597", "30392057" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "PEHO syndrome-like, MIM# 617507" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAPLE", "HkRP2", "SCA40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19967", "gene_name": "coiled-coil domain containing 88C", "omim_gene": [ "611204" ], "alias_name": [ "Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40" ], "gene_symbol": "CCDC88C", "hgnc_symbol": "CCDC88C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:91737667-91884188", "ensembl_id": "ENSG00000015133" } }, "GRch38": { "90": { "location": "14:91271323-91417844", "ensembl_id": "ENSG00000015133" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23042809", "21031079", "25062847", "30398676", "33602173" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia 40, MIM#616053", "Hydrocephalus, nonsyndromic, autosomal recessive 236600", "Early-onset pure hereditary spastic paraplegia" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCP1", "MCP-1", "MCAF", "SMC-CF", "GDCF-2", "HC11", "MGC9434" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10618", "gene_name": "C-C motif chemokine ligand 2", "omim_gene": [ "158105" ], "alias_name": [ "monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2" ], "gene_symbol": "CCL2", "hgnc_symbol": "CCL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:32582304-32584222", "ensembl_id": "ENSG00000108691" } }, "GRch38": { "90": { "location": "17:34255218-34257203", "ensembl_id": "ENSG00000108691" } } }, "hgnc_date_symbol_changed": "2002-08-23" }, "entity_type": "gene", "entity_name": "CCL2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{HIV-1, resistance to} MIM#609423", "{Mycobacterium tuberculosis, susceptibility to} MIM#607948", "{Spina bifida, susceptibility to} MIM#182940" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC4607", "OSM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21708", "gene_name": "CCM2 scaffolding protein", "omim_gene": [ "607929" ], "alias_name": [ "malcavernin", "osmosensing scaffold for MEKK3" ], "gene_symbol": "CCM2", "hgnc_symbol": "CCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:45039074-45116068", "ensembl_id": "ENSG00000136280" } }, "GRch38": { "90": { "location": "7:44999475-45076469", "ensembl_id": "ENSG00000136280" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "CCM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14624391", "18779516", "30356112", "21543988" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebral cavernous malformations-2 MIM#603284" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CCN6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12771", "gene_name": "WNT1 inducible signaling pathway protein 3", "omim_gene": [ "603400" ], "alias_name": null, "gene_symbol": "WISP3", "hgnc_symbol": "WISP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:112375275-112392171", "ensembl_id": "ENSG00000112761" } }, "GRch38": { "90": { "location": "6:112054072-112070969", "ensembl_id": "ENSG00000112761" } } }, "hgnc_date_symbol_changed": "1999-01-22" }, "entity_type": "gene", "entity_name": "WISP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10471507" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230", "Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U21B31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1582", "gene_name": "cyclin D1", "omim_gene": [ "168461" ], "alias_name": [ "parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1" ], "gene_symbol": "CCND1", "hgnc_symbol": "CCND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:69455855-69469242", "ensembl_id": "ENSG00000110092" } }, "GRch38": { "90": { "location": "11:69641087-69654474", "ensembl_id": "ENSG00000110092" } } }, "hgnc_date_symbol_changed": "1991-06-06" }, "entity_type": "gene", "entity_name": "CCND1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12097293", "23502783", "21131975", "14657069", "23540573", "20633772" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Colorectal cancer, susceptibility to} MIM#114500", "{Multiple myeloma, susceptibility to} MIM#254500", "{von Hippel-Lindau syndrome, modifier of} MIM#193300" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1583", "gene_name": "cyclin D2", "omim_gene": [ "123833" ], "alias_name": [ "G1/S-specific cyclin D2" ], "gene_symbol": "CCND2", "hgnc_symbol": "CCND2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:4382938-4414516", "ensembl_id": "ENSG00000118971" } }, "GRch38": { "90": { "location": "12:4273772-4305350", "ensembl_id": "ENSG00000118971" } } }, "hgnc_date_symbol_changed": "1991-12-10" }, "entity_type": "gene", "entity_name": "CCND2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder, CCND2-related MONDO: 0700092", "Microcephaly, MONDO: 0001149", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UDG2", "FLJ22422", "UNG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18576", "gene_name": "cyclin O", "omim_gene": [ "607752" ], "alias_name": null, "gene_symbol": "CCNO", "hgnc_symbol": "CCNO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:54526980-54529508", "ensembl_id": "ENSG00000152669" } }, "GRch38": { "90": { "location": "5:55231152-55233680", "ensembl_id": "ENSG00000152669" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "CCNO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24747639", "31765523", "28801648" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 29, MIM# 615872" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28434", "gene_name": "cyclin Q", "omim_gene": [ "300708" ], "alias_name": null, "gene_symbol": "FAM58A", "hgnc_symbol": "CCNQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch38": { "90": { "location": "X:153587919-153600045", "ensembl_id": "ENSG00000262919" } } }, "hgnc_date_symbol_changed": "2017-07-14" }, "entity_type": "gene", "entity_name": "FAM58A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18297069", "8818947", "28322501", "8818947" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CC-CKR-2", "CKR2", "MCP-1-R", "CD192", "FLJ78302" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1603", "gene_name": "C-C motif chemokine receptor 2", "omim_gene": [ "601267" ], "alias_name": null, "gene_symbol": "CCR2", "hgnc_symbol": "CCR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:46395225-46402419", "ensembl_id": "ENSG00000121807" } }, "GRch38": { "90": { "location": "3:46353734-46360928", "ensembl_id": "ENSG00000121807" } } }, "hgnc_date_symbol_changed": "1995-05-30" }, "entity_type": "gene", "entity_name": "CCR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34516427", "17504215", "15167933", "17604544", "38157855" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{HIV infection, susceptibility/resistance to}", "Polycystic lung disease MIM#219600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CKR-5", "CC-CKR-5", "CKR5", "CD195", "IDDM22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1606", "gene_name": "C-C motif chemokine receptor 5 (gene/pseudogene)", "omim_gene": [ "601373" ], "alias_name": null, "gene_symbol": "CCR5", "hgnc_symbol": "CCR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:46411633-46417697", "ensembl_id": "ENSG00000160791" } }, "GRch38": { "90": { "location": "3:46370854-46376206", "ensembl_id": "ENSG00000160791" } } }, "hgnc_date_symbol_changed": "1996-05-15" }, "entity_type": "gene", "entity_name": "CCR5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Hepatitis C virus, resistance to} 609532", "{HIV infection, susceptibility/resistance to}", "{West nile virus, susceptibility to}MIM# 610379" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0098" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1618", "gene_name": "chaperonin containing TCP1 subunit 5", "omim_gene": [ "610150" ], "alias_name": null, "gene_symbol": "CCT5", "hgnc_symbol": "CCT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:10250033-10266524", "ensembl_id": "ENSG00000150753" } }, "GRch38": { "90": { "location": "5:10249921-10266412", "ensembl_id": "ENSG00000150753" } } }, "hgnc_date_symbol_changed": "1999-09-29" }, "entity_type": "gene", "entity_name": "CCT5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16399879", "25124038", "25345891" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SFA-1", "PETA-3", "TSPAN24", "RAPH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1630", "gene_name": "CD151 molecule (Raph blood group)", "omim_gene": [ "602243" ], "alias_name": null, "gene_symbol": "CD151", "hgnc_symbol": "CD151", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:832843-839831", "ensembl_id": "ENSG00000177697" } }, "GRch38": { "90": { "location": "11:832843-839831", "ensembl_id": "ENSG00000177697" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "CD151", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15265795", "29138120" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1633", "gene_name": "CD19 molecule", "omim_gene": [ "107265" ], "alias_name": null, "gene_symbol": "CD19", "hgnc_symbol": "CD19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28943260-28950667", "ensembl_id": "ENSG00000177455" } }, "GRch38": { "90": { "location": "16:28931939-28939346", "ensembl_id": "ENSG00000177455" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "CD19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16672701", "17882224", "17882224", "21330302", "21159371" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency, common variable, 3, MIM# 613493" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null } ] }